Investigation of Cytogenetic Abnormalities in Infertile Men with Idiopathic Spermatogenesis Disorder

Background: Infertility is one of the most common sexual health problems in the world affecting around 15% of couples. Males are responsible for the main cause of infertility in 50% of infertile couples, and the results of sperm analysis are abnormal in 25% of infertile men without any known etiology (i.e., idiopathic male infertility), where clinical history, physical examination, and hormonal analyses usually render normal results. Advances in various biomedical fields have allowed researchers to determine the role of interactions between genetic and environmental factors in the pathogenesis of infertility. Therefore, this study aimed to investigate cytogenetic abnormalities in men with idiopathic infertility. Methods: This cross-sectional descriptive-analytical study was conducted on 135 infertile men (aged between 18 and 45 years) whose spouses seemed healthy in terms of fertility and were aged<35 years old. The patients initially underwent clinical examinations and paraclinical tests (hormonal tests, including FSH, LH, and testosterone). Spermogram was performed twice with an interval of 2 weeks following the standard criteria published by the World Health Organization (WHO), according to which men with known causes of infertility and obstructive azoospermia were excluded. Finally, only patients with idiopathic spermatogenesis disorder (normal clinical history, physical examination, and hormonal tests) were included in the study. All patients were subjected to cytogenetic analysis (karyotype). The data were analyzed using descriptive statistics and the independent t-test and chi-square test by SPSS version 20 software. Results: The results showed that out of 135 patients studied, 73 patients (54%) had cytogenetic abnormalities, while no abnormalities were found in 62 (46%) patients. The comparison of men with cytogenetic abnormalities with those without abnormalities showed statistically significant differences in terms of age, duration of infertility, and spouse’s age (P=0.001). In patients carrying cytogenetic abnormalities, 33 (45%) patients had sex chromosome problems (the most common defect was 46, XY, del (Y) (q11.2- qter)) while 40 (55%) patients revealed abnormalities in autosomal chromosomes (the most common autosomal chromosomal defect was 46, XY, inv (1) (p22q24)). Oligoasthenoteratozoospermia (OAT) was the most common spermatogenesis disorder in patients carrying cytogenetic abnormalities (n=15, 20%), followed by non-obstructive azoospermia (NOA) (n=12, 16%). Overall, deletions constituted the most frequent cytogenetic defects observed in those carrying abnormal karyotypes (n=30, 41%). Conclusion: Considering the high incidence of chromosomal abnormalities in infertile men with OAT and NOA, it is strongly suggested to conduct cytogenetic analysis in these patients to detect microdeletions in chromosome Y before administering assisted-reproductive technology techniques.